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The protein encoded by HCCS is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Zusätzlich bieten wir Ihnen Holocytochrome C Synthase Antikörper (81) und Holocytochrome C Synthase Kits (16) und viele weitere Produktgruppen zu diesem Protein an.
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Data suggest that although HCCS mediates heme attachment to N-terminal cysteine in heme-attachment site (CXXXH) of cytochrome C (zeige CYCS Proteine) variants, up to 50% of cytochrome C (zeige CYCS Proteine) produced is modified in an oxygen-dependent manner, resulting in a mixed population of cytochrome c (zeige CYCS Proteine). [HCCS = holocytochrome c synthase]
Bacterial cyt c (zeige CYCS Proteine) biogenesis pathways (Systems I and II) appear to recognize simply the CXXCH motif, not requiring alpha helix-1. Results here explain mechanistically how HCCS (System III) requires an extended region adjacent to CXXCH for maturation.
cysteines and histidine of the heme attachment site, Cys (zeige DNAJC5 Proteine)-XX-Cys (zeige DNAJC5 Proteine)-His play a key role in mitochondrial holocytochrome c synthase
These data indicate that heme contacts mediated by residues within these domains modulate the dynamics of heme binding and contribute to the stability of the HCCS-heme-cytochrome c (zeige CYCS Proteine) steady state ternary complex.
Identification of a deletion in two patients, including HCCS, leads to the diagnosis of microphthalmia with linear skin defects syndrome
Spectroscopic analyses of HCCS alone and complexes of HCCS with site-directed variants of cytochrome c (zeige CYCS Proteine) revealed the fundamental steps of heme attachment and maturation.
Through the study of genetically engineered mice, the loss of HCCS is demonstrated to cause the male lethality of microphthalmia with linear skin defects (MLS) syndrome.
mutant proteins (R217C and Delta 197-268) were unable to complement a Saccharomyces cerevisiae mutant deficient for the HCCS orthologue Cyc3p, in contrast to wild-type HCCS
Missense mutation p.E159K of HCCS, leading to loss-of-function of encoded holocytochrome c-type synthase, in female with microphthalmia of both eyes and bilateral sclerocornea may suggest HCCS as candidate for severe ocular manifestations.
Analysis of Mid1 (zeige MID1 Proteine), Hccs, Arhgap6 (zeige ARHGAP6 Proteine), and Msl3l1 (zeige MSL3 Proteine) in X-linked polydactyly (Xpl) and Patchy-fur (Paf (zeige KIAA0101 Proteine)) mutant mice
The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene.
cytochrome c-type heme lyase
, holocytochrome c synthetase b
, holocytochrome c synthase (cytochrome c heme-lyase)
, holocytochrome c synthase
, cytochrome c heme-lyase
, holocytochrome c-type synthase
, holocytochrome c synthetase